A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS: A common clinical examination and an ophthalmic evaluation were performed on th...

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Detalles Bibliográficos
Autores principales: Hu, Junjie, Liang, Desheng, Xue, Jinjie, Liu, Jing, Wu, Lingqian
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060156/
https://www.ncbi.nlm.nih.gov/pubmed/21423867

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